ClinVar Miner

Variants in gene CDKN2A

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
65 61 406 171 25 19 18 652

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 35 33 228 92 14 0 0 380
Hereditary cutaneous melanoma 43 16 230 37 5 0 0 330
not provided 17 7 83 25 12 0 6 139
Melanoma-pancreatic cancer syndrome 6 5 32 35 9 0 0 84
not specified 0 0 19 54 12 0 12 84
Cutaneous malignant melanoma 2 1 0 11 2 0 19 0 33
Malignant melanoma of skin 0 10 0 0 0 0 0 10
Squamous cell carcinoma of the head and neck 0 10 0 0 0 0 0 10
Neoplasm 0 9 0 0 0 0 0 9
Squamous cell carcinoma of the skin 0 9 0 0 0 0 0 9
Adenocarcinoma of stomach 0 7 0 0 0 0 0 7
Pancreatic adenocarcinoma 0 7 0 0 0 0 0 7
Squamous cell lung carcinoma 0 6 0 0 0 0 0 6
Lung adenocarcinoma 0 5 0 0 0 0 0 5
Transitional cell carcinoma of the bladder 0 5 0 0 0 0 0 5
Hepatocellular carcinoma 0 4 0 0 0 0 0 4
Melanoma-pancreatic cancer syndrome; Cutaneous malignant melanoma 2; Melanoma astrocytoma syndrome 2 0 2 0 0 0 0 4
Cutaneous melanoma 1 2 0 0 0 0 0 3
Neoplasm of the large intestine 0 3 0 0 0 0 0 3
Adenocarcinoma of prostate 0 1 0 0 0 0 0 1
Carcinoma of esophagus 0 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Melanoma 0 0 1 0 0 0 0 1
Melanoma astrocytoma syndrome 1 0 0 0 0 0 0 1
Osteoblastic Osteosarcoma 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 42 16 230 48 10 0 0 346
Ambry Genetics 29 31 171 63 6 0 0 300
Color 10 5 102 47 13 0 0 177
GeneDx 22 6 65 53 7 0 0 153
Counsyl 4 3 23 20 6 0 0 56
Mendelics 1 2 17 17 5 0 0 41
Quest Diagnostics Nichols Institute San Juan Capistrano 2 1 20 7 11 0 0 35
Integrated Genetics/Laboratory Corporation of America 2 0 17 9 3 0 0 31
PreventionGenetics,PreventionGenetics 0 1 9 7 7 0 0 24
OMIM 4 0 0 0 0 19 0 21
Database of Curated Mutations (DoCM) 0 19 0 0 0 0 0 19
ITMI 0 0 0 0 0 0 12 12
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 7 0 2 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 0 6
True Health Diagnostics 0 0 2 2 2 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 6 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 1 2 0 0 5
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 0 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 1 0 1 1 0 0 0 3
GeneKor MSA 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 2 0 0 0 0 2
Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1

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